Canonical Allele Identifier: CA409508562
Gene: CDH4 HGNC NCBI

Linked Data

dbSNP Id: rs2055065811
MyVariant Identifiers: chr20:g.60503251T>C (hg19) chr20:g.61928193T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928193T>C , CM000682.2:g.61928193T>C GRCh38
NC_000020.10:g.60503251T>C , CM000682.1:g.60503251T>C GRCh37
NC_000020.9:g.59936646T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1775T>C MANE Select ENSP00000484928.1:p.Ile592Thr
ENST00000543233.2:c.1553T>C ENSP00000443301.1:p.Ile518Thr
ENST00000611855.4:c.1493T>C ENSP00000480844.1:p.Ile498Thr
ENST00000614565.4:c.1775T>C ENSP00000484928.1:p.Ile592Thr
NM_001252338.2:c.1664T>C NP_001239267.1:p.Ile555Thr
NM_001252339.2:c.1553T>C NP_001239268.1:p.Ile518Thr
NM_001794.4:c.1775T>C NP_001785.2:p.Ile592Thr
NM_001794.5:c.1775T>C MANE Select NP_001785.2:p.Ile592Thr
NM_001252339.3:c.1553T>C NP_001239268.1:p.Ile518Thr
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